‘Matchstick’ eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome

Goujon, E.; Beer, Felix de; Fraïtag, Sylvie; Hovnanian, Alain; Vabres, P.

doi:10.1111/j.1468-3083.2009.03459.x

Cited by 25 publications

(15 citation statements)

References 6 publications

(6 reference statements)

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“…8 Neri and colleagues demonstrated that all three findings could be visualized in eyelashes. 8 Neri and colleagues demonstrated that all three findings could be visualized in eyelashes.…”

Section: Discussionmentioning

confidence: 98%

Rapid and Easy Diagnosis of Netherton Syndrome with Dermoscopy

et al. 2014

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“…8 Neri and colleagues demonstrated that all three findings could be visualized in eyelashes. 8 Neri and colleagues demonstrated that all three findings could be visualized in eyelashes.…”

Section: Discussionmentioning

confidence: 98%

Rapid and Easy Diagnosis of Netherton Syndrome with Dermoscopy

et al. 2014

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“…An NS patient homozygous for the c.2471_2475delAAGA-GinsT SPINK5 mutation, leading to a premature termination codon without impairing splicing (Goujon et al, 2010), showed complete absence of LEKTI (Figure 3b). In contrast, NSK1 and NSK2 displayed weak expression of LEKTI fragments compared with NHK ( Figure 3b).…”

Section: Ns Patients 1 and 2 Exhibit Residual Lekti Expression In Culmentioning

confidence: 97%

Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations

Lacroix

Lacaze-Buzy

Furio

et al. 2012

Journal of Investigative Dermatology

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Netherton syndrome (NS) is a severe skin disease caused by loss-of-function mutations in SPINK5 (serine protease inhibitor Kazal-type 5) encoding the serine protease inhibitor LEKTI (lympho-epithelial Kazal type-related inhibitor). Here, we disclose new SPINK5 defects in 12 patients, who presented a clinical triad suggestive of NS with variations in inter- and intra-familial disease expression. We identified a new and frequent synonymous mutation c.891C>T (p.Cys297Cys) in exon 11 of the 12 NS patients. This mutation disrupts an exonic splicing enhancer sequence and causes out-of-frame skipping of exon 11. Haplotype analysis indicates that this mutation is a founder mutation in Greece. Two other new deep intronic mutations, c.283-12T>A in intron 4 and c.1820+53G>A in intron 19, induced partial intronic sequence retention. A new nonsense c.2557C>T (p.Arg853X) mutation was also identified. All mutations led to a premature termination codon resulting in no detectable LEKTI on skin sections. Two patients with deep intronic mutations showed residual LEKTI fragments in cultured keratinocytes. These fragments retained some functional activity, and could therefore, together with other determinants, contribute to modulate the disease phenotype. This new founder mutation, the most frequent mutation described in European populations so far, and these unusual intronic mutations, widen the clinical and molecular spectrum of NS and offer new diagnostic perspectives for NS patients.

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“…We read with great interest the article entitled 'Matchstick eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome' published by E. Goujon et al in the JEADV, 1 in which the authors reported a new dermoscopic morphological aspect typical of Netherton Syndrome (NS).…”

Section: Editormentioning

confidence: 99%

“…Editor Although studies on vitiligo are aplenty in the English scientific literature, there is dearth of reports dedicated to mucosal involvement in vitiligo. 1,2 A recent study has observed that mucosal involvement in vitiligo is associated with progression of disease, Letters to the Editor…”

Section: Mucosal Involvement In Vitiligo: a Comprehensive Review Of 2mentioning

confidence: 99%